Flumazenil responsive ornithine transcarbamylase deficiency encephalopathy: Clinical and radiographic features

Michael A. Meyer, Ralitza H. Gavrilova

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

A 22-year-old woman with a negative urine drug screen and somnolence rapidly reversed by intravenous flumazenil was found to have elevated ammonia levels and punctate calcifications of the subcortical frontal white matter. Abnormally high levels of orotic acid were found in serum and urine, confirming the diagnosis of ornithine transcarbamylase deficiency. Although computed tomography findings are non-specific, young patients with unexplained hyperammonemic states of somnolence reversed by flumazenil should be screened for this X-linked recessive metabolic disorder.

Original languageEnglish (US)
Pages (from-to)87-89
Number of pages3
JournalJournal of Neuroimaging
Volume12
Issue number1
DOIs
StatePublished - 2002

Keywords

  • Benzodiazepine
  • Computed tomography
  • Flumazenil
  • Ornithine transcarbamylase
  • Orotic acid

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

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